SNP Links for Protein (Select 22094987) - SNP

Links from Protein

Items: 1 to 20 of 1133

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Select item 14905131091.

rs1490513109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:80961446 (GRCh38)
17:78935246 (GRCh37)
Canonical SPDI:: NC_000017.11:80961445:C:A,NC_000017.11:80961445:C:T
Gene:: RPTOR (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.80961446C>A, NC_000017.11:g.80961446C>T, NC_000017.10:g.78935246C>A, NC_000017.10:g.78935246C>T, NG_013034.2:g.421622C>A, NG_013034.2:g.421622C>T, NM_020761.3:c.3658C>A, NM_020761.3:c.3658C>T, NM_020761.2:c.3658C>A, NM_020761.2:c.3658C>T, NM_001163034.2:c.3184C>A, NM_001163034.2:c.3184C>T, NM_001163034.1:c.3184C>A, NM_001163034.1:c.3184C>T, NP_065812.1:p.Gln1220Lys, NP_065812.1:p.Gln1220Ter, NP_001156506.1:p.Gln1062Lys, NP_001156506.1:p.Gln1062Ter

Select item 14904290402.

rs1490429040 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:80908918 (GRCh38)
17:78882718 (GRCh37)
Canonical SPDI:: NC_000017.11:80908917:A:G
Gene:: RPTOR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.80908918A>G, NC_000017.10:g.78882718A>G, NG_013034.2:g.369094A>G, NM_020761.3:c.2509A>G, NM_020761.2:c.2509A>G, NM_001163034.2:c.2035A>G, NM_001163034.1:c.2035A>G, NP_065812.1:p.Ile837Val, NP_001156506.1:p.Ile679Val

Select item 14887984853.

rs1488798485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:80545773 (GRCh38)
17:78519573 (GRCh37)
Canonical SPDI:: NC_000017.11:80545772:C:A,NC_000017.11:80545772:C:T
Gene:: RPTOR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.80545773C>A, NC_000017.11:g.80545773C>T, NC_000017.10:g.78519573C>A, NC_000017.10:g.78519573C>T, NG_013034.2:g.5949C>A, NG_013034.2:g.5949C>T, NM_020761.3:c.144C>A, NM_020761.3:c.144C>T, NM_020761.2:c.144C>A, NM_020761.2:c.144C>T, NM_001163034.2:c.144C>A, NM_001163034.2:c.144C>T, NM_001163034.1:c.144C>A, NM_001163034.1:c.144C>T, NP_065812.1:p.Ser48Arg, NP_001156506.1:p.Ser48Arg

Select item 14873309464.

rs1487330946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:80925432 (GRCh38)
17:78899232 (GRCh37)
Canonical SPDI:: NC_000017.11:80925431:G:A,NC_000017.11:80925431:G:C
Gene:: RPTOR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.80925432G>A, NC_000017.11:g.80925432G>C, NC_000017.10:g.78899232G>A, NC_000017.10:g.78899232G>C, NG_013034.2:g.385608G>A, NG_013034.2:g.385608G>C, NM_020761.3:c.2871G>A, NM_020761.3:c.2871G>C, NM_020761.2:c.2871G>A, NM_020761.2:c.2871G>C, NM_001163034.2:c.2397G>A, NM_001163034.2:c.2397G>C, NM_001163034.1:c.2397G>A, NM_001163034.1:c.2397G>C

Select item 14865798285.

rs1486579828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:80908897 (GRCh38)
17:78882697 (GRCh37)
Canonical SPDI:: NC_000017.11:80908896:G:A
Gene:: RPTOR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80908897G>A, NC_000017.10:g.78882697G>A, NG_013034.2:g.369073G>A, NM_020761.3:c.2488G>A, NM_020761.2:c.2488G>A, NM_001163034.2:c.2014G>A, NM_001163034.1:c.2014G>A, NP_065812.1:p.Ala830Thr, NP_001156506.1:p.Ala672Thr

Select item 14862306186.

rs1486230618 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:80964314 (GRCh38)
17:78938114 (GRCh37)
Canonical SPDI:: NC_000017.11:80964313:A:G
Gene:: RPTOR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80964314A>G, NC_000017.10:g.78938114A>G, NG_013034.2:g.424490A>G, NM_020761.3:c.3992A>G, NM_020761.2:c.3992A>G, NM_001163034.2:c.3518A>G, NM_001163034.1:c.3518A>G, NP_065812.1:p.Glu1331Gly, NP_001156506.1:p.Glu1173Gly

Select item 14861532057.

rs1486153205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:80922724 (GRCh38)
17:78896524 (GRCh37)
Canonical SPDI:: NC_000017.11:80922723:G:A
Gene:: RPTOR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.0002/1 (1000Genomes)
HGVS:: NC_000017.11:g.80922724G>A, NC_000017.10:g.78896524G>A, NG_013034.2:g.382900G>A, NM_020761.3:c.2521G>A, NM_020761.2:c.2521G>A, NM_001163034.2:c.2047G>A, NM_001163034.1:c.2047G>A, NP_065812.1:p.Ala841Thr, NP_001156506.1:p.Ala683Thr

Select item 14846299538.

rs1484629953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:80940538 (GRCh38)
17:78914338 (GRCh37)
Canonical SPDI:: NC_000017.11:80940537:C:G,NC_000017.11:80940537:C:T
Gene:: RPTOR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80940538C>G, NC_000017.11:g.80940538C>T, NC_000017.10:g.78914338C>G, NC_000017.10:g.78914338C>T, NG_013034.2:g.400714C>G, NG_013034.2:g.400714C>T, NM_020761.3:c.2962C>G, NM_020761.3:c.2962C>T, NM_020761.2:c.2962C>G, NM_020761.2:c.2962C>T, NM_001163034.2:c.2488C>G, NM_001163034.2:c.2488C>T, NM_001163034.1:c.2488C>G, NM_001163034.1:c.2488C>T, NP_065812.1:p.Arg988Gly, NP_065812.1:p.Arg988Trp, NP_001156506.1:p.Arg830Gly, NP_001156506.1:p.Arg830Trp

Select item 14817900139.

rs1481790013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:80754181 (GRCh38)
17:78727981 (GRCh37)
Canonical SPDI:: NC_000017.11:80754180:C:A,NC_000017.11:80754180:C:T
Gene:: RPTOR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.80754181C>A, NC_000017.11:g.80754181C>T, NC_000017.10:g.78727981C>A, NC_000017.10:g.78727981C>T, NG_013034.2:g.214357C>A, NG_013034.2:g.214357C>T, NM_020761.3:c.826C>A, NM_020761.3:c.826C>T, NM_020761.2:c.826C>A, NM_020761.2:c.826C>T, NM_001163034.2:c.826C>A, NM_001163034.2:c.826C>T, NM_001163034.1:c.826C>A, NM_001163034.1:c.826C>T, NP_065812.1:p.Arg276Ser, NP_065812.1:p.Arg276Cys, NP_001156506.1:p.Arg276Ser, NP_001156506.1:p.Arg276Cys

Select item 148142687410.

rs1481426874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:80961394 (GRCh38)
17:78935194 (GRCh37)
Canonical SPDI:: NC_000017.11:80961393:C:T
Gene:: RPTOR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.80961394C>T, NC_000017.10:g.78935194C>T, NG_013034.2:g.421570C>T, NM_020761.3:c.3606C>T, NM_020761.2:c.3606C>T, NM_001163034.2:c.3132C>T, NM_001163034.1:c.3132C>T

Select item 148095693211.

rs1480956932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:80923511 (GRCh38)
17:78897311 (GRCh37)
Canonical SPDI:: NC_000017.11:80923510:C:T
Gene:: RPTOR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.80923511C>T, NC_000017.10:g.78897311C>T, NG_013034.2:g.383687C>T, NM_020761.3:c.2646C>T, NM_020761.2:c.2646C>T, NM_001163034.2:c.2172C>T, NM_001163034.1:c.2172C>T

Select item 148068690812.

rs1480686908 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:80963022 (GRCh38)
17:78936822 (GRCh37)
Canonical SPDI:: NC_000017.11:80963021:G:A
Gene:: RPTOR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.80963022G>A, NC_000017.10:g.78936822G>A, NG_013034.2:g.423198G>A, NM_020761.3:c.3904G>A, NM_020761.2:c.3904G>A, NM_001163034.2:c.3430G>A, NM_001163034.1:c.3430G>A, NP_065812.1:p.Gly1302Ser, NP_001156506.1:p.Gly1144Ser

Select item 148063621613.

rs1480636216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:80960127 (GRCh38)
17:78933927 (GRCh37)
Canonical SPDI:: NC_000017.11:80960126:C:T
Gene:: RPTOR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80960127C>T, NC_000017.10:g.78933927C>T, NG_013034.2:g.420303C>T, NM_020761.3:c.3527C>T, NM_020761.2:c.3527C>T, NM_001163034.2:c.3053C>T, NM_001163034.1:c.3053C>T, NP_065812.1:p.Ser1176Phe, NP_001156506.1:p.Ser1018Phe

Select item 148055185014.

rs1480551850 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:80923528 (GRCh38)
17:78897328 (GRCh37)
Canonical SPDI:: NC_000017.11:80923527:T:C
Gene:: RPTOR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80923528T>C, NC_000017.10:g.78897328T>C, NG_013034.2:g.383704T>C, NM_020761.3:c.2663T>C, NM_020761.2:c.2663T>C, NM_001163034.2:c.2189T>C, NM_001163034.1:c.2189T>C, NP_065812.1:p.Leu888Pro, NP_001156506.1:p.Leu730Pro

Select item 148039549215.

rs1480395492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:80885139 (GRCh38)
17:78858939 (GRCh37)
Canonical SPDI:: NC_000017.11:80885138:G:T
Gene:: RPTOR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80885139G>T, NC_000017.10:g.78858939G>T, NG_013034.2:g.345315G>T, NM_020761.3:c.1974G>T, NM_020761.2:c.1974G>T, NP_065812.1:p.Met658Ile

Select item 148019723216.

rs1480197232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:80545679 (GRCh38)
17:78519479 (GRCh37)
Canonical SPDI:: NC_000017.11:80545678:A:G
Gene:: RPTOR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80545679A>G, NC_000017.10:g.78519479A>G, NG_013034.2:g.5855A>G, NM_020761.3:c.50A>G, NM_020761.2:c.50A>G, NM_001163034.2:c.50A>G, NM_001163034.1:c.50A>G, NP_065812.1:p.Asp17Gly, NP_001156506.1:p.Asp17Gly

Select item 147843444117.

rs1478434441 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:80707945 (GRCh38)
17:78681745 (GRCh37)
Canonical SPDI:: NC_000017.11:80707944:T:C
Gene:: RPTOR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80707945T>C, NC_000017.10:g.78681745T>C, NG_013034.2:g.168121T>C, NM_020761.3:c.453T>C, NM_020761.2:c.453T>C, NM_001163034.2:c.453T>C, NM_001163034.1:c.453T>C

Select item 147778962918.

rs1477789629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:80846493 (GRCh38)
17:78820293 (GRCh37)
Canonical SPDI:: NC_000017.11:80846492:G:A
Gene:: RPTOR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80846493G>A, NC_000017.10:g.78820293G>A, NG_013034.2:g.306669G>A, NM_020761.3:c.1233G>A, NM_020761.2:c.1233G>A, NM_001163034.2:c.1233G>A, NM_001163034.1:c.1233G>A

Select item 147712620819.

rs1477126208 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGC>- [Show Flanks]
Chromosome:: 17:80893754 (GRCh38)
17:78867554 (GRCh37)
Canonical SPDI:: NC_000017.11:80893746:CAGCAGCAGC:CAGCAGC
Gene:: RPTOR (Varview), LOC124904075 (Varview)
Functional Consequence:: upstream_transcript_variant,inframe_deletion,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80893748AGC[2], NC_000017.10:g.78867548AGC[2], NG_013034.2:g.353924AGC[2], NM_020761.3:c.2284AGC[2], NM_020761.2:c.2284AGC[2], NM_001163034.2:c.1810AGC[2], NM_001163034.1:c.1810AGC[2], NP_065812.1:p.Ser764del, NP_001156506.1:p.Ser606del

Select item 147706954520.

rs1477069545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:80885088 (GRCh38)
17:78858888 (GRCh37)
Canonical SPDI:: NC_000017.11:80885087:C:T
Gene:: RPTOR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000017.11:g.80885088C>T, NC_000017.10:g.78858888C>T, NG_013034.2:g.345264C>T, NM_020761.3:c.1923C>T, NM_020761.2:c.1923C>T

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